Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes

• DOI: 10.1073/pnas.96.24.13983
• Publication Date: 2002-07-26T14:35:07Z
• Authors: T. L. McDowell; R. J. Gibbons; H. Sutherland; D. M. O’Rourke; W. A. Bickmore; A. Pombo; H. Turley; K. Gatter; D. J. Picketts; V. J. Buckle; L. Chapman; D. Rhodes; D. R. Higgs
• Keywords: ATRX; Heterochromatin protein 1; Euchromatin

ATRX is a member of the SNF2 family helicase/ATPases that thought to regulate gene expression via an effect on chromatin structure and/or function. Mutations in hATRX cause severe syndromal mental retardation associated with α-thalassemia. Using indirect immunofluorescence and confocal microscopy we have shown protein pericentromeric heterochromatin during interphase mitosis. By coimmunofluorescence, localizes mouse homologue Drosophila heterochromatic HP1 vivo , consistent previous two-hybrid screen identifying this interaction. From analysis trap assay for nuclear proteins, localization encoded by its N-terminal region, which contains conserved plant homeodomain-like finger coiled-coil domain. In addition association heterochromatin, at metaphase clearly binds short arms human acrocentric chromosomes, where arrays ribosomal DNA are located. The unexpected putative transcriptional regulator highly repetitive provides potential explanation variability phenotype patients identical mutations gene.